chr7:55248993:>TCCAGGAAGCCT Detail (hg19) (EGFR, EGFR-AS1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr7:55,248,993-55,248,993 |
| hg38 | chr7:55,181,300-55,181,300 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_005228.3:c.2290_2291insTCCAGGAAGCCT | NP_005219.2:p.Ala763_Tyr764insPheGlnGluAla |
| NM_001346897.1:c.2155_2156insTCCAGGAAGCCT | NP_001333826.1:p.Ala718_Tyr719insPheGlnGluAla | |
| Ensemble | ENST00000275493.7:c.2290_2291insTCCAGGAAGCCT | ENST00000275493.7:p.Ala763_Tyr764insPheGlnGluAla |
Summary
MGeND
| Clinical significance |
not provided
|
| Variant entry | 5 |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
| Clinical Significance |
Likely pathogenic
|
| Review star |  |
| Show details | |
Disease area statistics
MGeND
| Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
|---|---|---|---|---|---|---|---|---|---|
|
not provided
|
bronchus or lung, unspecified |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan |
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Likely pathogenic
|
2011-07-01 | criteria provided, single submitter | Non-small cell lung carcinoma |
somatic
|
Detail |
CIViC
| Disease | Drug | EL | ET | ED | CS | VO | TR | Pubmed | Links |
|---|---|---|---|---|---|---|---|---|---|
| lung non-small cell carcinoma | Erlotinib | D |
Predictive
|
Supports
|
Sensitivity/Response | Somatic | 24353160 | Detail |
DisGeNET
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| In an in vitro study, Ba/F3 and BID007 cell lines expressing EGFR A763_Y764insFQEA demonstrated incr... | CIViC Evidence | Detail |
| NM_005228.5(EGFR):c.2284-5_2290dup AND Non-small cell lung carcinoma | ClinVar | Detail |
Overlapped Transcript Coordinates
| Gene | Transcript ID | Exon Number | Chromosome | Start | Stop | Type | Amino Mutation | Transcript Position | Links |
|---|
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs397517106 dbSNP
- Genome
- hg19
- Position
- chr7:55,248,993-55,248,993
- Variant Type
- snv
- Reference Allele
- -
- Alternative Allele
- TCCAGGAAGCCT
- Variant (CIViC) (CIViC Variant)
- A763_Y764insFQEA
- Transcript 1 (CIViC Variant)
- ENST00000275493.2
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/1515
Genome browser